Variant report

Variant	rs4708996
Chromosome Location	chr6:163928029-163928030
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163921298..163924177-chr6:163927731..163929828,2	MCF-7	breast:
2	chr6:163926892..163930001-chr6:163930926..163934200,4	K562	blood:
3	chr6:163921116..163923007-chr6:163926762..163928930,2	K562	blood:
4	chr6:163923513..163926538-chr6:163926650..163930288,4	K562	blood:
5	chr6:163913424..163915892-chr6:163926474..163929271,3	K562	blood:
6	chr6:163927892..163930001-chr6:163930926..163932933,2	K562	blood:

Extended variants
information (count: 131 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1003528	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1016501	1.00[ASN][1000 genomes]
rs1016502	1.00[ASN][1000 genomes]
rs1040514	1.00[ASN][1000 genomes]
rs1047944	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752044	1.00[ASN][1000 genomes]
rs12194023	1.00[ASN][1000 genomes]
rs1230321	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234603	1.00[ASN][1000 genomes]
rs1234604	1.00[ASN][1000 genomes]
rs1234976	1.00[ASN][1000 genomes]
rs1614795	1.00[ASN][1000 genomes]
rs1619076	1.00[ASN][1000 genomes]
rs1619863	1.00[ASN][1000 genomes]
rs1629251	1.00[ASN][1000 genomes]
rs1737329	1.00[ASN][1000 genomes]
rs1737333	1.00[ASN][1000 genomes]
rs1737600	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737601	1.00[ASN][1000 genomes]
rs1737603	1.00[ASN][1000 genomes]
rs1737604	1.00[ASN][1000 genomes]
rs1737606	1.00[ASN][1000 genomes]
rs1737607	1.00[ASN][1000 genomes]
rs1737609	1.00[ASN][1000 genomes]
rs1737611	1.00[ASN][1000 genomes]
rs1737612	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744924	1.00[ASN][1000 genomes]
rs1744925	1.00[ASN][1000 genomes]
rs1744926	1.00[ASN][1000 genomes]
rs1744927	1.00[ASN][1000 genomes]
rs1744928	1.00[ASN][1000 genomes]
rs1744933	1.00[ASN][1000 genomes]
rs1745094	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038146	1.00[ASN][1000 genomes]
rs2038147	1.00[ASN][1000 genomes]
rs2057003	1.00[ASN][1000 genomes]
rs2092406	1.00[ASN][1000 genomes]
rs2092407	1.00[ASN][1000 genomes]
rs2179523	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2179524	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2321698	1.00[ASN][1000 genomes]
rs2321700	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2321701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321702	1.00[ASN][1000 genomes]
rs2484877	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744420	1.00[ASN][1000 genomes]
rs2744421	1.00[ASN][1000 genomes]
rs2745364	1.00[ASN][1000 genomes]
rs2745365	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757579	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757580	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757581	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757582	1.00[ASN][1000 genomes]
rs2757583	1.00[ASN][1000 genomes]
rs2757586	1.00[ASN][1000 genomes]
rs2757587	1.00[ASN][1000 genomes]
rs2757588	0.84[EUR][1000 genomes]
rs2757589	1.00[ASN][1000 genomes]
rs2759381	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2759383	1.00[ASN][1000 genomes]
rs2759384	1.00[ASN][1000 genomes]
rs2759385	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759387	1.00[ASN][1000 genomes]
rs2759388	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759389	1.00[ASN][1000 genomes]
rs2759390	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759391	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759392	1.00[ASN][1000 genomes]
rs2759393	1.00[ASN][1000 genomes]
rs2759395	1.00[ASN][1000 genomes]
rs2759398	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759399	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784865	1.00[ASN][1000 genomes]
rs2784867	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784873	1.00[ASN][1000 genomes]
rs2874602	1.00[ASN][1000 genomes]
rs4708997	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5008180	0.82[EUR][1000 genomes]
rs56721804	1.00[ASN][1000 genomes]
rs6455900	1.00[ASN][1000 genomes]
rs6455902	1.00[ASN][1000 genomes]
rs6455903	1.00[ASN][1000 genomes]
rs6455904	1.00[ASN][1000 genomes]
rs6909364	1.00[ASN][1000 genomes]
rs6913113	1.00[ASN][1000 genomes]
rs6914387	1.00[ASN][1000 genomes]
rs6915247	1.00[ASN][1000 genomes]
rs6924130	1.00[ASN][1000 genomes]
rs6926584	1.00[ASN][1000 genomes]
rs6927417	1.00[ASN][1000 genomes]
rs6931049	1.00[ASN][1000 genomes]
rs721190	1.00[ASN][1000 genomes]
rs721191	1.00[ASN][1000 genomes]
rs7746116	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749189	1.00[ASN][1000 genomes]
rs7752945	1.00[ASN][1000 genomes]
rs7761088	1.00[ASN][1000 genomes]
rs7768051	1.00[ASN][1000 genomes]
rs7769145	1.00[ASN][1000 genomes]
rs7775850	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7776279	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783136	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783138	1.00[ASN][1000 genomes]
rs783140	1.00[ASN][1000 genomes]
rs803613	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs809155	1.00[ASN][1000 genomes]
rs813640	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs814143	1.00[ASN][1000 genomes]
rs9295222	1.00[ASN][1000 genomes]
rs9295223	1.00[ASN][1000 genomes]
rs9295224	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347754	1.00[ASN][1000 genomes]
rs9347755	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9347756	1.00[ASN][1000 genomes]
rs9347759	1.00[ASN][1000 genomes]
rs9347763	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356117	1.00[ASN][1000 genomes]
rs9356120	1.00[ASN][1000 genomes]
rs9356121	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365572	1.00[ASN][1000 genomes]
rs9365573	1.00[ASN][1000 genomes]
rs9365574	1.00[ASN][1000 genomes]
rs9365577	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9456866	1.00[ASN][1000 genomes]
rs9456869	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1019551	chr6:163842358-163965216	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1017495	chr6:163856399-163981095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv524205	chr6:163919517-163938331	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2763608	chr6:163920117-163943429	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4708996	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163911800-163934800	Weak transcription	Pancreas	Pancrea
2	chr6:163916000-163929200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:163916200-163928200	Enhancers	Brain Substantia Nigra	brain
4	chr6:163920200-163934800	Weak transcription	Ovary	ovary
5	chr6:163922800-163928400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:163923000-163928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:163923800-163929800	Enhancers	Brain Hippocampus Middle	brain
8	chr6:163924400-163931600	Weak transcription	Aorta	Aorta
9	chr6:163925000-163929400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr6:163925200-163928600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:163925200-163928800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:163925400-163928600	Enhancers	Fetal Heart	heart
13	chr6:163925400-163931000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:163925600-163929400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:163925600-163929600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr6:163925600-163929600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr6:163925600-163930600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:163925800-163928600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:163925800-163929600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr6:163926000-163929200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
21	chr6:163926000-163929400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:163926000-163930600	ZNF genes & repeats	Fetal Muscle Leg	muscle
23	chr6:163926400-163928600	ZNF genes & repeats	GM12878-XiMat	blood
24	chr6:163926600-163928600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:163926600-163929200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:163926600-163934800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:163926600-163934800	Weak transcription	Lung	lung
28	chr6:163926600-163934800	Weak transcription	Psoas Muscle	Psoas
29	chr6:163926600-163934800	Weak transcription	Right Atrium	heart
30	chr6:163926600-163946200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:163926600-163946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:163926600-163991800	Weak transcription	Esophagus	oesophagus
33	chr6:163926800-163930200	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:163926800-163931400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr6:163926800-163934800	Weak transcription	Right Ventricle	heart
36	chr6:163927000-163928200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:163927200-163929200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr6:163927200-163931000	Weak transcription	Left Ventricle	heart
39	chr6:163927200-163951600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:163927400-163928400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:163927400-163928400	ZNF genes & repeats	NH-A	brain
42	chr6:163927400-163928800	Strong transcription	HSMM	muscle
43	chr6:163927400-163929600	ZNF genes & repeats	Fetal Lung	lung
44	chr6:163927400-163929600	ZNF genes & repeats	K562	blood
45	chr6:163927600-163928600	Enhancers	Brain Anterior Caudate	brain
46	chr6:163927800-163928200	ZNF genes & repeats	Primary T cells from cord blood	blood
47	chr6:163927800-163928800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr6:163927800-163929400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr6:163927800-163929600	ZNF genes & repeats	HepG2	liver
50	chr6:163927800-163929800	ZNF genes & repeats	Primary B cells from cord blood	blood

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